A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520825



Internal ID297138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42789468..42791365hg38UCSC Ensembl
chr17:40941486..40943383hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724534
Samples
Known GenesWNK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520825
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer